Results for the protein: Q9GZU1

Results for the Protein: Q9GZU1

50401163

57192

MCOLN1

NCBI, UniProt

MCLN1_HUMAN RecName: Full=Mucolipin-1; AltName: Full=MG-2; AltName: Full=Mucolipidin

Known Diseases associated with this Protein:
MUCOLIPIDOSIS IV
MUCOLIPIDOSIS TYPE IV (MLIV)

11

1

4

0

8

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Default View:	Swiss-Prot Protein: Q9GZU1 Identical to: NP_065394 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038380	Disease	p.ARG403CYS	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_019371	Disease	p.ASP362TYR	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_019369	Disease	p.LEU106PRO	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_019374	Disease	p.LEU447PRO	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_019375	Disease	p.PHE465LEU	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_019370	Disease	p.THR232PRO	Mucolipidosis type IV (MLIV)
Swiss-Prot	VAR_036453	Polymorphism	p.VAL331LEU	N/A
Swiss-Prot	VAR_019373	Disease	p.VAL446LEU	Mucolipidosis type IV (MLIV)
OMIM	605248.0007	Disease	p.ARG403CYS	MUCOLIPIDOSIS IV
OMIM	605248.0006	Disease	p.ARG102TER	MUCOLIPIDOSIS IV
OMIM	605248.0003	Disease	p.ARG321TER	MUCOLIPIDOSIS IV
OMIM	605248.0005	Disease	p.ASP362TYR	MUCOLIPIDOSIS IV

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